Publicacións en colaboración con investigadores/as de Children's Hospital of Philadelphia (7)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2022

  1. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

  2. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2018

  1. Site variability in regulatory oversight for an international study of pediatric sepsis

    Pediatric Critical Care Medicine, Vol. 19, Núm. 4, pp. e180-e188

2016

  1. Comparison of Pediatric Severe Sepsis Managed in U.S. and European ICUs

    Pediatric Critical Care Medicine, Vol. 17, Núm. 6, pp. 522-530

2015

  1. Discordant identification of pediatric severe sepsis by research and clinical definitions in the SPROUT international point prevalence study

    Critical Care, Vol. 19, Núm. 1